Varaico: Literature-Extracted Genetic Variants

BCAN

123 papers

RefSeq Summary

This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may f...

Pfam Domains

V-setaa 41–155UCSCImmunoglobulin V-set domain

Xlinkaa 157–251UCSCExtracellular link domain

Xlinkaa 258–353UCSCExtracellular link domain

EGFaa 650–680UCSCEGF-like domain

Lectin_Caa 705–810UCSCLectin C-type domain

Sushiaa 815–871UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

brevican

HGNC Alias Symbols

BEHAB; MGC13038; CSPG7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_021948.5

p.E504K

c.1510G>A

Surrounding Variants

1 paper

NM_021948.5

p.P483L

c.1448C>T

1 paper

NM_021948.5

p.G525E

c.1574G>A

1 paper

NM_021948.5

p.P533S

c.1597C>T

1 paper

NM_021948.5

p.P546S

c.1636C>T

1 paper

NM_021948.5

p.F445L

c.1335C>A

1 paper

NM_021948.5

p.F445L

c.1335C>G

1 paper

NM_021948.5

p.F445L

c.1333T>C

1 paper

NM_021948.5

p.P441L

c.1322C>T

1 paper

NM_021948.5

p.E433Splc

c.1298-4C>T

1 paper

NM_021948.5

p.R579Q

c.1736G>A

1 paper

NM_021948.5

p.E583K

c.1747G>A

1 paper

NM_021948.5

p.A591V

c.1772C>T